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Links from Protein

Items: 1 to 20 of 629

1.

rs1490765788 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:6822229 (GRCh38)
    19:6822240 (GRCh37)
    Canonical SPDI:
    NC_000019.10:6822228:T:C
    Gene:
    VAV1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.00001/2 (GnomAD_exomes)
    HGVS:
    2.

    rs1490731461 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:6825312 (GRCh38)
      19:6825323 (GRCh37)
      Canonical SPDI:
      NC_000019.10:6825311:C:T
      Gene:
      VAV1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      4.

      rs1488692859 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        19:6854078 (GRCh38)
        19:6854089 (GRCh37)
        Canonical SPDI:
        NC_000019.10:6854077:C:T
        Gene:
        VAV1 (Varview)
        Functional Consequence:
        stop_gained,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (GnomAD_exomes)
        HGVS:
        5.

        rs1486725623 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:6848012 (GRCh38)
          19:6848023 (GRCh37)
          Canonical SPDI:
          NC_000019.10:6848011:T:C
          Gene:
          VAV1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          7.

          rs1482551725 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            19:6822476 (GRCh38)
            19:6822487 (GRCh37)
            Canonical SPDI:
            NC_000019.10:6822475:G:A
            Gene:
            VAV1 (Varview)
            Functional Consequence:
            missense_variant,intron_variant,coding_sequence_variant
            HGVS:
            8.

            rs1480926472 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              19:6822491 (GRCh38)
              19:6822502 (GRCh37)
              Canonical SPDI:
              NC_000019.10:6822490:G:T
              Gene:
              VAV1 (Varview)
              Functional Consequence:
              missense_variant,intron_variant,coding_sequence_variant
              HGVS:
              9.

              rs1480577203 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:6821654 (GRCh38)
                19:6821665 (GRCh37)
                Canonical SPDI:
                NC_000019.10:6821653:C:T
                Gene:
                VAV1 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                10.

                rs1480476651 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  19:6828433 (GRCh38)
                  19:6828444 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:6828432:C:A
                  Gene:
                  VAV1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  11.

                  rs1479710313 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    19:6825112 (GRCh38)
                    19:6825123 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:6825111:C:A
                    Gene:
                    VAV1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    12.

                    rs1478549387 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      19:6854006 (GRCh38)
                      19:6854017 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:6854005:C:T
                      Gene:
                      VAV1 (Varview)
                      Functional Consequence:
                      stop_gained,synonymous_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      13.

                      rs1476715930 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:6825322 (GRCh38)
                        19:6825333 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:6825321:C:T
                        Gene:
                        VAV1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        15.

                        rs1472371108 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          19:6822428 (GRCh38)
                          19:6822439 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:6822427:A:G
                          Gene:
                          VAV1 (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant
                          HGVS:
                          16.

                          rs1466647685 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:6826685 (GRCh38)
                            19:6826696 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:6826684:C:T
                            Gene:
                            VAV1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0.000006/1 (GnomAD_exomes)
                            T=0.000156/1 (1000Genomes)
                            HGVS:
                            17.

                            rs1464713911 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              19:6820794 (GRCh38)
                              19:6820805 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:6820793:C:T
                              Gene:
                              VAV1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              18.

                              rs1459949528 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                19:6833262 (GRCh38)
                                19:6833273 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:6833261:C:T
                                Gene:
                                VAV1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (GnomAD_exomes)
                                T=0.000015/4 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                HGVS:
                                19.

                                rs1453438674 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  19:6820798 (GRCh38)
                                  19:6820809 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:6820797:G:A
                                  Gene:
                                  VAV1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0./0 (GnomAD)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  20.

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